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LLPS of FXR1 drives spermiogenesis by activating translation of stored mRNAs.
Kang JY, Wen Z, Pan D, Zhang Y, Li Q, Zhong A, Yu X, Wu YC, Chen Y, Zhang X, Kou PC, Geng J, Wang YY, Hua MM, Zong R, Li B, Shi HJ, Li D, Fu XD, Li J, Nelson DL, Guo X, Zhou Y, Gou LT, Huang Y, Liu MF. Kang JY, et al. Among authors: nelson dl. Science. 2022 Aug 12;377(6607):eabj6647. doi: 10.1126/science.abj6647. Epub 2022 Aug 12. Science. 2022. PMID: 35951695
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.
Estañ MC, Fernández-Núñez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano EF, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bönnemann CG, Lapunzina P, Yoon G, Ruiz-Perez VL. Estañ MC, et al. Among authors: nelson dl. Nat Commun. 2019 Feb 15;10(1):797. doi: 10.1038/s41467-019-08548-9. Nat Commun. 2019. PMID: 30770808 Free PMC article.
Triplet repeat mutations in human disease.
Caskey CT, Pizzuti A, Fu YH, Fenwick RG Jr, Nelson DL. Caskey CT, et al. Among authors: nelson dl. Science. 1992 May 8;256(5058):784-9. doi: 10.1126/science.1589758. Science. 1992. PMID: 1589758 Review.
Genetics. The critical region in trisomy 21.
Nelson DL, Gibbs RA. Nelson DL, et al. Science. 2004 Oct 22;306(5696):619-21. doi: 10.1126/science.1105226. Science. 2004. PMID: 15499000 No abstract available.
Fragile X-related proteins regulate mammalian circadian behavioral rhythms.
Zhang J, Fang Z, Jud C, Vansteensel MJ, Kaasik K, Lee CC, Albrecht U, Tamanini F, Meijer JH, Oostra BA, Nelson DL. Zhang J, et al. Among authors: nelson dl. Am J Hum Genet. 2008 Jul;83(1):43-52. doi: 10.1016/j.ajhg.2008.06.003. Epub 2008 Jun 26. Am J Hum Genet. 2008. PMID: 18589395 Free PMC article.
789 results